combined cellular and humoral immune defects with granulomas Disease Ontology Browser

About Help FAQ

Disease Ontology Browser

combined cellular and humoral immune defects with granulomas (DOID:0112253)
Alliance: disease page
Synonyms: CCHIDG; CID due to RAG 1/2 deficiency; combined immunodeficiency due to RAG 1/2 deficiency; combined immunodeficiency with granulomatosis; combined immunodeficiency with skin granulomas
Alt IDs: OMIM:233650, MESH:C567115, ORDO:157949
Definition: A combined immunodeficiency characterized by combined cellular and humoral deficiencies and multiple granulomas that has_material_basis_in homozyous or compound heterozygous mutation in the RAG1 gene or the RAG2 gene on chromosome 11p12.

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support.	last database update 12/10/2024 MGI 6.24